Incidental Mutation 'R2217:Tmem59l'
ID 241214
Institutional Source Beutler Lab
Gene Symbol Tmem59l
Ensembl Gene ENSMUSG00000035964
Gene Name transmembrane protein 59-like
Synonyms 5330410G16Rik
MMRRC Submission 040219-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R2217 (G1)
Quality Score 103
Status Not validated
Chromosome 8
Chromosomal Location 70936517-70940008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70939951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 6 (L6S)
Ref Sequence ENSEMBL: ENSMUSP00000043659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045286]
AlphaFold Q7TNI2
Predicted Effect unknown
Transcript: ENSMUST00000045286
AA Change: L6S
SMART Domains Protein: ENSMUSP00000043659
Gene: ENSMUSG00000035964
AA Change: L6S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 33 41 N/A INTRINSIC
low complexity region 44 60 N/A INTRINSIC
Pfam:BSMAP 72 278 1e-67 PFAM
low complexity region 311 319 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211264
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a predicted type-I membrane glycoprotein. The encoded protein may play a role in functioning of the central nervous system. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 T C 8: 112,709,128 (GRCm39) K232E probably benign Het
Apba1 T C 19: 23,871,326 (GRCm39) M386T probably damaging Het
Appl2 G T 10: 83,444,601 (GRCm39) F472L possibly damaging Het
Atxn2 T C 5: 121,941,140 (GRCm39) Y56H probably damaging Het
Cacna1c T C 6: 118,647,368 (GRCm39) Y809C probably damaging Het
Canx C T 11: 50,201,694 (GRCm39) V59I probably benign Het
Catsperb T C 12: 101,560,478 (GRCm39) L823P probably damaging Het
Crb3 T C 17: 57,372,090 (GRCm39) S46P probably benign Het
Daam1 G A 12: 72,036,601 (GRCm39) R1058H probably damaging Het
Ehd1 T A 19: 6,348,502 (GRCm39) D493E probably damaging Het
Eml6 T A 11: 29,768,907 (GRCm39) Q746L probably damaging Het
Epg5 T A 18: 77,992,287 (GRCm39) M328K probably benign Het
Flt4 T A 11: 49,515,555 (GRCm39) S48T probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm7535 A G 17: 18,131,936 (GRCm39) probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Hmcn2 A T 2: 31,240,586 (GRCm39) T494S probably benign Het
Hydin G A 8: 111,145,138 (GRCm39) V830I probably benign Het
Map3k6 T A 4: 132,973,983 (GRCm39) H487Q possibly damaging Het
Myh14 G A 7: 44,283,800 (GRCm39) P735S probably damaging Het
Nfkb2 T C 19: 46,296,163 (GRCm39) probably null Het
Nlrp4c T C 7: 6,076,113 (GRCm39) V671A probably benign Het
Nsrp1 A T 11: 76,936,587 (GRCm39) Y536* probably null Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Pak5 A G 2: 135,958,123 (GRCm39) S322P probably damaging Het
Pank2 A G 2: 131,124,601 (GRCm39) probably null Het
Phf6 A T X: 52,031,525 (GRCm39) I272F probably damaging Het
Plxna2 T C 1: 194,480,056 (GRCm39) L1409P probably damaging Het
Polr2a A G 11: 69,633,511 (GRCm39) probably null Het
Pp2d1 C A 17: 53,822,482 (GRCm39) V195L probably benign Het
Psma1 C T 7: 113,864,173 (GRCm39) E227K unknown Het
Ptger1 C T 8: 84,395,357 (GRCm39) T278I probably benign Het
Slc20a2 C A 8: 23,050,532 (GRCm39) S250R probably benign Het
Slc27a2 A G 2: 126,409,672 (GRCm39) T285A probably damaging Het
Slc47a2 T C 11: 61,204,497 (GRCm39) T285A probably benign Het
Slf1 T A 13: 77,194,825 (GRCm39) probably null Het
Tiam2 A G 17: 3,465,389 (GRCm39) T373A probably benign Het
Timd2 T A 11: 46,577,844 (GRCm39) I96L probably damaging Het
Tmem64 T C 4: 15,266,658 (GRCm39) I236T possibly damaging Het
Trpm2 T A 10: 77,777,016 (GRCm39) D427V probably damaging Het
Vax2 A T 6: 83,714,871 (GRCm39) Y262F probably damaging Het
Virma T C 4: 11,544,924 (GRCm39) S1628P probably damaging Het
Zan C A 5: 137,408,568 (GRCm39) probably benign Het
Zbtb22 T G 17: 34,136,939 (GRCm39) D361E probably damaging Het
Zfp27 A G 7: 29,595,536 (GRCm39) L143P possibly damaging Het
Other mutations in Tmem59l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00903:Tmem59l APN 8 70,938,315 (GRCm39) splice site probably benign
IGL01479:Tmem59l APN 8 70,938,748 (GRCm39) missense probably benign 0.00
IGL01783:Tmem59l APN 8 70,939,874 (GRCm39) missense probably damaging 1.00
IGL01998:Tmem59l APN 8 70,937,431 (GRCm39) missense probably benign 0.16
R0973:Tmem59l UTSW 8 70,938,710 (GRCm39) missense possibly damaging 0.93
R0973:Tmem59l UTSW 8 70,938,710 (GRCm39) missense possibly damaging 0.93
R0974:Tmem59l UTSW 8 70,938,710 (GRCm39) missense possibly damaging 0.93
R1201:Tmem59l UTSW 8 70,937,037 (GRCm39) nonsense probably null
R1540:Tmem59l UTSW 8 70,937,804 (GRCm39) missense probably benign 0.05
R1775:Tmem59l UTSW 8 70,938,903 (GRCm39) missense probably damaging 1.00
R2238:Tmem59l UTSW 8 70,937,772 (GRCm39) missense probably damaging 0.99
R2313:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R2315:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R2969:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R2970:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3011:Tmem59l UTSW 8 70,938,887 (GRCm39) missense probably damaging 1.00
R3725:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3726:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3774:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3775:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3826:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3827:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3828:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3829:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3851:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3943:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R3944:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R4064:Tmem59l UTSW 8 70,938,369 (GRCm39) missense probably damaging 1.00
R4409:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R4410:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R4422:Tmem59l UTSW 8 70,938,749 (GRCm39) missense probably damaging 0.98
R4470:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R4471:Tmem59l UTSW 8 70,939,951 (GRCm39) missense unknown
R4767:Tmem59l UTSW 8 70,938,748 (GRCm39) missense probably benign 0.00
R5321:Tmem59l UTSW 8 70,939,865 (GRCm39) missense probably damaging 1.00
R6130:Tmem59l UTSW 8 70,937,255 (GRCm39) missense probably damaging 1.00
R6527:Tmem59l UTSW 8 70,938,775 (GRCm39) missense probably damaging 1.00
R6603:Tmem59l UTSW 8 70,939,006 (GRCm39) missense probably benign 0.31
R6750:Tmem59l UTSW 8 70,939,022 (GRCm39) missense probably benign 0.34
R7542:Tmem59l UTSW 8 70,937,814 (GRCm39) missense possibly damaging 0.56
R8265:Tmem59l UTSW 8 70,938,426 (GRCm39) missense probably damaging 0.99
R9320:Tmem59l UTSW 8 70,937,822 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- TCCATCTGAGGGTCCTACAC -3'
(R):5'- GATCCAAGTCCGGTCAAAGAGC -3'

Sequencing Primer
(F):5'- AGGGTCCTACACTCAGGTC -3'
(R):5'- TCAGTGACGTCAACACC -3'
Posted On 2014-10-15